{"orpha":300501,"name":"Painful orbital and systemic neurofibromas-marfanoid habitus syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare, benign, peripheral nerve sheath tumor disorder characterized by multiple, painful, mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa, associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia, and multiple subcutaneous and submucosal nodules in the lips and sublingual zone.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-300501/","orphanet_url":"https://www.orpha.net/en/disease/detail/300501","names":{"fr":{"name":"Syndrome marfanoïde-neurofibromes systémiques et orbitaux douloureux","definition":"Tumeur bénigne des gaines nerveuses périphériques caractérisée par de multiples neurofibromes plexiformes douloureux riches en mucine, situés dans les orbites, le crâne, les nerfs rachidiens de gros calibre et la muqueuse, associés à un habitus marfanoïde, une hypertrophie des nerfs cornéens, des anomalies congénitales de la migration neuronale et une dysmorphie faciale à type de ptosis, de proptose, de grand nez, de lèvres épaisses, d'hyperplasie gingivale et de multiples nodules sous-cutanés et sous-muqueux dans les lèvres et la zone sublinguale."},"de":{"name":"Schmerzhafte orbitale und systemische Neurofibrome-marfanoider Habitus-Syndrom"},"es":{"name":"Síndrome de dolor orbital y neurofibromas sistémicos-hábito marfanoide","definition":"Es un trastorno tumoral de la vaina del nervio periférico, benigno y poco frecuente, caracterizado por múltiples neurofibromas plexiformes ricos en mucina y dolorosos, localizados en las órbitas, cráneo, grandes nervios espinales y mucosa. Se asocia a hábito marfanoide, nervios corneales agrandados, anomalías congénitas de la migración neuronal y dismorfia facial que incluye ptosis, proptosis, nariz prominente, labios carnosos, hiperplasia gingival y múltiples nódulos subcutáneos y submucosos en los labios y en la zona sublingual."},"it":{"name":"Sindrome da neurofibromi dolorosi orbitali sistemici e habitus marfanoide","definition":"La sindrome che associa i neurofibromi dolorosi orbitali e sistemici e l'habitus marfanoide è un tumore benigno raro della guaina dei nervi periferici, caratterizzato da neurofibromi multipli dolorosi plessiformi ricchi di mucina localizzati nelle orbite, nel cranio, nei grandi nervi spinali e nella mucosa, associati ad habitus marfanoide, ingrossamento dei nervi corneali, anomalie congenite della migrazione neuronale e dismorfismi facciali (ptosi, proptosi, naso prominente, labbra carnose, iperplasia delle gengive e noduli sottocutanei e sottomucosi multipli sulle labbra e nella zona sottolinguale."},"nl":{"name":"Pijnlijke orbitale en systemische neurofibromen - marfanoïde habitus-syndroom","definition":"Pijnlijke orbitale en systemische neurofibromen - marfanoïde habitus-syndroom is een zeldzame, goedaardige, perifere zenuwschedetumor, en wordt gekarakteriseerd door multipele, pijnlijke, plexiforme neurofibromen die rijk zijn aan mucine en gesitueerd zijn in de oogkas, schedel, grote ruggenmergzenuwen en mucosa, geassocieerd met een marfanoïde habitus, vergrote zenuwen van het hoornvlies, congenitale anomalieën van de neuronale migratie, en faciale dysmorfie met onder meer ptose, proptosis, prominente neus, volle lippen, hyperplasie van het tandvlees, en multipele subcutane en submucosale noduli in de lippen en de sublinguale zone."},"pt":{"name":"Síndrome de neurofibromas orbitários e sistémicos dolorosos-habitus marfanóide"},"pl":{"name":"Zespół bolesnych nerwiakowłókniaków oczodołu i układowych z sylwetką marfanoidalną","definition":"*Zespół bolesnych nerwiakowłókniaków oczodołu i układowych z sylwetką marfanoidalną jest rzadkim, łagodnym zaburzeniem nowotworowym otoczki nerwów obwodowych, które charakteryzuje się występowaniem licznych, bolesnych, bogatych w mucynę nerwiakowłókniaków splotowatych umiejscownikowych w oczodołach, czaszce, dużych nerwach rdzeniowych i błonie śluzowej. Towarzyszą sylwetka marfanoidalna, powiększone nerwy rogówki, wrodzone zaburzenia migracji neuronów i dysmorfia twarzy, która obejmuje opadanie powiek, wytrzeszcz, wydatny nos, pełne usta, przerost dziąseł oraz liczne guzki podskórne i podśluzówkowe w wargach i okolicy podjęzykowej."},"cs":{"name":"Syndrom zahrnující bolestivé orbitální a systémové neurofibromy a marfanoidní habitus"},"uk":{"name":"Синдром болючих орбітальних та системних нейрофібром-марфаноїдного габітусу","definition":"Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare, benign, peripheral nerve sheath tumor disorder characterized by multiple, painful, mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa, associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia, and multiple subcutaneous and submucosal nodules in the lips and sublingual zone."},"zh":{"name":"眼眶疼痛-全身神经纤维瘤-马凡样外表综合征","definition":"眼眶疼痛与系统性神经纤维瘤-马凡体型综合征是一种罕见的良性周围神经鞘瘤，其特征是位于眼眶、颅骨、大的脊神经和黏膜中的多发性、疼痛性富含粘蛋白的丛状神经纤维瘤，伴马凡体型、角膜神经增大，先天性神经元迁移异常和面部畸形，包括上睑下垂、突眼、鼻子突出、嘴唇丰满、牙龈增生，及嘴唇、舌下区多发皮下和粘膜下结节。"},"tr":{"name":"Ağrılı orbital ve sistemik nörofibroma-marfanoid habitus sendromu"}},"xrefs":[{"source":"ICD-10","code":"D36.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017585","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751109","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11006","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":252131,"name":"Benign peripheral nerve sheath tumor","classifications":[181,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adolescent"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"22258529[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}